| Metadata | |
|---|---|
| ID | DOID:0111519 |
| Name | autosomal dominant progressive external ophthalmoplegia with mitochondrial DNA deletions 6 |
| Definition | A chronic progressive external ophthalmoplegia characterized by muscle weakness, mainly affecting the lower limbs, external ophthalmoplegia, exercise intolerance and mtDNA deletions that has_material_basis_in heterozygous mutation in the DNA2 gene on chromosome 10q21.3. https://www.ncbi.nlm.nih.gov/pubmed/23352259 |
| Xrefs | |
| Subsets |
DO_rare_slim |
| Synonyms |
autosomal dominant progressive external ophthalmoplegia 6 [EXACT] DNA2-related mitochondrial DNA deletion syndrome [EXACT] mitochondrial DNA deletion syndrome with limb-girdle weakness [EXACT] mitochondrial DNA deletion syndrome with progressive myopathy [EXACT] mtDNA deletion syndrome with limb-girdle weakness [EXACT] mtDNA deletion syndrome with progressive myopathy [EXACT] PEOA6 [EXACT] |
| Parent Relationships | |
| Subclass Logical Relationships |
has material basis in some autosomal dominant inheritance has symptom some muscle weakness |